Genomes and Genes
Gene Symbol: RPE65
Description: retinal pigment epithelium-specific protein 65kDa
Alias: LCA2, RP20, mRPE65, rd12, sRPE65, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, p63, retinal pigment epithelium-specific 65 kDa protein, retinitis pigmentosa 20 (autosomal recessive), retinoid isomerohydrolase, retinol isomerase
Publications151 found, 100 shown here
- A chromatin immunoprecipitation screen in mouse keratinocytes reveals Runx1 as a direct transcriptional target of DeltaNp63Kori Ortt
Department of Biochemistry, State University of New York at Buffalo, Buffalo, New York 14214, USA
J Cell Biochem 104:1204-19. 2008..The transcription factor p63 plays a critical role in these steps as evident by a complete lack of these structures in p63 null mice...
- Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroupsQuan Yuan
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
J Biol Chem 285:988-99. 2010..The critical isomerization step in this pathway is catalyzed by Rpe65. Rpe65 is strongly associated with membranes but contains no membrane-spanning segments...
- Deletion of GRK1 causes retina degeneration through a transducin-independent mechanismJie Fan
Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
J Neurosci 30:2496-503. 2010b>Rpe65(-/-) mice are unable to produce 11-cis-retinal, the chromophore of visual pigments. Consequently, the pigment is present as the apoprotein opsin with a minute level of pigment containing 9-cis-retinal as chromophore...
- RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseasesBiju Joseph
Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India
J Genet 81:19-23. 2002We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyDebra A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA
Am J Hum Genet 70:224-9. 2002..We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14...
- Mutation analysis of 3 genes in patients with Leber congenital amaurosisA J Lotery
Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
Arch Ophthalmol 118:538-43. 2000To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA).
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsFrancesca Simonelli
Department of Ophthalmology, Second University of Naples, Naples, Italy
Invest Ophthalmol Vis Sci 48:4284-90. 2007..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
- Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophyS M Gu
Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
Nat Genet 17:194-7. 1997..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...
- Systemic aminoglycoside treatment in rodent models of retinitis pigmentosaK Guerin
Vision Science, University of California, Berkeley, CA 94720, USA
Exp Eye Res 87:197-207. 2008..in rhodopsin (S334ter); and a mouse model of recessive disease (rd12) caused by a PTC in the retinoid isomerase Rpe65. Initial luciferase reporter assays were undertaken to measure the efficiency of gentamicin-induced read-through ..
- Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutationGeoffrey K Aguirre
Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
PLoS Med 4:e230. 2007b>RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA)...
- Differential neuroglycan C expression during retinal degeneration in Rpe65-/- micePascal Escher
Institute for Research in Ophthalmology, Sion, Switzerland
Mol Vis 14:2126-35. 2008..and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a targeted disruption of the Rpe65 gene (Rpe65-/- mouse)...
- Acute radiolabeling of retinoids in eye tissues of normal and rpe65-deficient miceNasser M Qtaishat
Lions of Illinois Eye Research Institute, Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Invest Ophthalmol Vis Sci 44:1435-46. 2003Mice with a targeted disruption of the gene encoding RPE65, a protein ordinarily highly expressed in the retinal pigment epithelium (RPE), accumulate abnormally high levels of all-trans retinyl ester in the RPE and exhibit very little 11-..
- Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) miceCorinne Kostic
Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
PLoS ONE 6:e16588. 2011..Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in ..
- Dominant negative p63 isoform expression in head and neck squamous cell carcinomaJoseph C Sniezek
Department of Otolaryngology Head and Neck Surgery, Tripler Army Medical Center, 1 Jarrett White Road, Honolulu, HI 96859 5000, USA
Laryngoscope 114:2063-72. 2004b>p63, a member of the p53 family of genes, is vital for normal epithelial development and may play a critical role in epithelial tumor formation...
- Reconstruction of ionic currents in a molluscan photoreceptorM Sakakibara
Department of Biological Science and Technology, School of High Tecnology for Human Welfare, Tokai University, Shizuoka, Japan
Biophys J 65:519-27. 1993..Based on these reconstructions of ionic currents, learning-induced enhancement of the long lasting depolarization (LLD) of the photoreceptor'slight response was shown to arise from progressive inactivation of /A, lca2+ -K+, and lCa2+.
- Giant cell tumor of bone express p63Brendan C Dickson
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
Mod Pathol 21:369-75. 2008b>p63 contributes to skeletal development and tumor formation; however, little is known regarding its activity in the context of bone and soft tissue neoplasms...
- Comparison of the basal cell-specific markers, 34betaE12 and p63, in the diagnosis of prostate cancerRajal B Shah
Deparment of Pathology and Urology, University of Michigan School of Medicine and Comprenhensive Cancer Center, Ann Arbor, Michigan 48109, USA
Am J Surg Pathol 26:1161-8. 2002..A recently identified basal cell marker p63, a p53 homologue, stains basal cell nuclei but not secretory cells...
- Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disordersJ N Glickman
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Pathol 32:1157-65. 2001b>p63 is a p53-related DNA-binding protein that helps regulate differentiation and proliferation in epithelial progenitor cells. Its expression has never been evaluated in the human gastrointestinal tract...
- Immunophenotypic overlap between adenoid cystic carcinoma and collagenous spherulosis of the breast: potential diagnostic pitfalls using myoepithelial markersJoseph T Rabban
Department of Pathology, University of California, San Francisco, CA 94143, USA
Mod Pathol 19:1351-7. 2006..The diagnosis may be even more challenging in needle core biopsies. Immunohistochemical expression of p63 and c-kit distinguishes adenoid cystic carcinoma from invasive cribriform carcinoma and ductal carcinoma in situ...
- Gene expression profiling identifies p63 as a diagnostic marker for giant cell tumor of the boneCheng Han Lee
Department of Pathology, Stanford University, Stanford, CA, USA
Mod Pathol 21:531-9. 2008..types, and significance analysis of microarray identified several genes including TP73L (encoding the p63 protein) that are significantly highly expressed in GCTOB relative to these other tumors...
- Assessment of p63 expression in the salivary gland neoplasms adenoid cystic carcinoma, polymorphous low-grade adenocarcinoma, and basal cell and canalicular adenomasPaul C Edwards
Department of Dental Medicine, Division of Oral Pathology, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97:613-9. 2004The purpose of this study was to determine the extent of p63 immunoreactivity in the malignant salivary gland neoplasms adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA) and to compare this to the expression ..
- The use of p63 as an effective immunomarker in the diagnosis of pulmonary squamous cell carcinomas on de-stained bronchial lavage cytological smearsM Uke
Division of Cytology, Tata Memorial Hospital, Mumbai, India
Cytopathology 21:56-63. 2010..Lately, p63 antibody has been used for distinguishing squamous cell carcinoma from SCLC and adenocarcinoma...
- Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dogKristina Narfstrom
Vision Science Group, Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
Invest Ophthalmol Vis Sci 44:1663-72. 2003To assess the efficacy of AAV-mediated gene therapy to restore vision in a large number of RPE65(-/-) dogs and to determine whether systemic and local side effects are caused by the treatment.
- Expression of p63 in anaplastic large cell lymphoma but not in classical Hodgkin's lymphomaGabriela Gualco
Consultoria em Patologia, 18602 010 Botucatu, Sao Paulo, Brazil
Hum Pathol 39:1505-10. 2008Immunohistochemical determination of p63 protein is frequently used in the pathologic diagnosis of nonhematological solid tumors...
- An immunohistochemical study of cervical neuroendocrine carcinomas: Neoplasms that are commonly TTF1 positive and which may express CK20 and P63W Glenn McCluggage
Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland
Am J Surg Pathol 34:525-32. 2010..Cases were stained with AE1/3, chromogranin, CD56, synaptophysin, PGP9.5, TTF1, p16, p63, CK7, CK20, neurofilament, and CD99...
- Identification of a KRAB-zinc finger protein binding to the Rpe65 gene promoterZhongjian Lu
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute NIH, 7 Memorial Drive, Bethesda, MD 20892, USA
Curr Eye Res 31:457-66. 2006We wish to identify transcriptional factors involved in regulation binding to the proximal promoter region of the RPE65 gene that confers RPE-specific expression.
- S-opsin protein is incompletely modified during N-glycan processing in Rpe65(-/-) miceKota Sato
Department of Biochemistry and Biotechnology, Division of Cell Technology, Faculty of Agriculture and Life Science, Hirosaki University, 3 Bunkyo cho, Aomori 036 8561, Japan
Exp Eye Res 91:54-62. 2010Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a key enzyme for the visual cycle in the eye. Rpe65(-/-) mice lack 11-cis-retinal, and show early cone degeneration and mislocalization of cone opsins...
- Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degenerationSéverine Hamann
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
PLoS ONE 4:e6616. 2009Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages...
- p63 expression in normal skin and usual cutaneous carcinomasJorge S Reis-Filho
IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Portugal
J Cutan Pathol 29:517-23. 2002b>p63 is a p53 homologue that is mapped to chromosome 3q27. This gene encodes six different isoforms, which have either transactivating or dominant negative effects on p53-reporter genes...
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001b>p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...
- Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsL L Barrow
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
J Med Genet 39:559-66. 2002..EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families...
- Claudin-1 is a p63 target gene with a crucial role in epithelial developmentTeresa Lopardo
Department of Biomolecular Sciences and Biotechnology, University of Milan, Milan, Italy
PLoS ONE 3:e2715. 2008..b>p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in ..
- Immunohistochemical detection of GLUT1, p63 and phosphorylated histone H1 in head and neck squamous intraepithelial neoplasia: evidence for aberrations in hypoxia-related, cell cycle- and stem-cell-regulatory pathwaysD E Burstein
Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA
Histopathology 48:708-16. 2006..Detection and grading of early squamous intraepithelial neoplasia may at times be problematic. The aim of this study was to examine the ability of immunomarkers GLUT1, phospho-histone H1 and p63 to detect such early lesions.
- Downregulation of p63 upon exposure to bile salts and acid in normal and cancer esophageal cells in cultureSabine Roman
Digestive Physiology, Pavillon H, Hopital Edouard Herriot, Place d Arsonval, 69437 Lyon Cedex 03, France
Am J Physiol Gastrointest Liver Physiol 293:G45-53. 2007b>p63 is a member of the p53 protein family that regulates differentiation and morphogenesis in epithelial tissues and is required for the formation of squamous epithelia...
- Partial atrophy on prostate needle biopsy cores: a morphologic and immunohistochemical studyWenle Wang
Department of Pathology, The John Hopkins Medical Institutions, Baltimore, MD 21231, USA
Am J Surg Pathol 32:851-7. 2008..sent to our consultation service in 2006 from a single institution, which frequently uses a triple cocktail stain [p63, high molecular weight cytokeratin (HMWCK), alpha-methyl acyl-Coa racemase (AMACR)]...
- P63 and cytokeratin8/18 expression in breast, atypical ductal hyperplasia, ductal carcinoma in situ and invasive duct carcinomaMaha M Shamloula
The Department of Pathology, Faculty of Medicine, Tanta University
J Egypt Natl Canc Inst 19:202-10. 2007Background and Purpose : The pattern and distribution of p63 expression as a myoepithelial/basal stem cell marker can be different between atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (..
- Immunohistochemical detection of XIAP and p63 in adenomatous hyperplasia, atypical adenomatous hyperplasia, bronchioloalveolar carcinoma and well-differentiated adenocarcinomaMaoxin Wu
1Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
Mod Pathol 21:553-8. 2008..inhibitor of apoptosis protein (XIAP), the most potent of the inhibitor of apoptosis protein (IAP) family, and p63, a marker of bronchial reserve cells (BRC) and squamous cells, in these entities...
- Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epitheliumM L Katz
University of Missouri School of Medicine, Mason Eye Institute, Columbia 65212, USA
Invest Ophthalmol Vis Sci 42:3023-30. 2001..In mice without a functional Rpe65 gene, isomerization of all-trans- to 11-cis-retinol is blocked...
- p63 promotes cell survival through fatty acid synthaseVenkata Sabbisetti
Department of Pathology, Brigham and Women s Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
PLoS ONE 4:e5877. 2009There is increasing evidence that p63, and specifically DeltaNp63, plays a central role in both development and tumorigenesis by promoting epithelial cell survival...
- Expression of p63 in conjunctival intraepithelial neoplasia and squamous cell carcinomaClaudia Auw-Haedrich
Eye Hospital, Albert Ludwigs University, 79106 Freiburg, Germany
Graefes Arch Clin Exp Ophthalmol 244:96-103. 2006b>p63 is a homologue of the tumour suppressor gene p53, which is expressed in human basal squamous epithelium...
- Expression of p63 differs in peritoneal endometriosis, endometriomas, adenomyosis, rectovaginal septum endometriosis, and abdominal wall endometriosisOmero B Poli Neto
Department of Surgery, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil
Arch Pathol Lab Med 131:1099-102. 2007..One protein that plays an important role in regulating epithelial proliferation and differentiation is the 63-kDa membrane protein (p63), which is also a marker of basal and reserve cells in the female genital tract.
- Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosaNan Kai Wang
Department of Ophthalmology, Columbia University, New York City, NY, USA
Transplantation 89:911-9. 2010To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice.
- Inhibition of epidermal growth factor receptor signaling decreases p63 expression in head and neck squamous carcinoma cellsKeith E Matheny
Vanderbilt Bill Wilkerson Department of Otolaryngology Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Laryngoscope 113:936-9. 2003Both the epidermal growth factor receptor (EGFR) and the p53 homologue p63 are overexpressed in a significant number of cases of head and neck squamous cell carcinoma (HNSCC)...
- Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defectsNadia Lo Iacono
Dulbecco Telethon Institute, Molecular Biotechnology Center, University of Torino, Via Nizza 52, Torino, 10126, Italy
Development 135:1377-88. 2008..SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63, an ectoderm-specific p53-related transcription factor...
- Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and agingBaerbel Rohrer
Department of Ophthalmology Medical University of South Carolina, 167 Ashley Avenue, Charleston, SC 29425, USA
Invest Ophthalmol Vis Sci 44:310-5. 2003b>RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy...
- Diagnostic utility of immunohistochemical staining for p63, a sensitive marker of prostatic basal cellsMichael H Weinstein
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts, USA
Mod Pathol 15:1302-8. 2002..Thus, a second method of identifying basal cells might prove useful. Selective expression of p63, a homologue of p53, has been demonstrated in prostatic basal cells...
- Cytology applications of p63 and TTF-1 immunostaining in differential diagnosis of lung cancersMaoxin Wu
Division of Cytopathology, Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA
Diagn Cytopathol 33:223-7. 2005..We have demonstrated the role of p63 and thyroid transcription factor-1 (TTF-1) in the differential diagnosis of poorly differentiated squamous-cell ..
- [Detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer]Tao Yu
Department of Urology, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China
Zhonghua Nan Ke Xue 13:222-5. 2007To investigate the value of detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer (PCa).
- Expression of the p63 and Notch signaling systems in rat testes during postnatal development: comparison with their expression levels in the epididymis and vas deferensTetsuo Hayashi
Department of Urology, Saitama Medical Center, Saitama Medical School, 1981 Tsujido, Kamoda, Kawagoe, Saitama 350 8550, Japan
J Androl 25:692-8. 2004..A member of the p53 family of genes, p63, is highly expressed in the basal layers of epithelial tissues and plays a key role in maintaining their cell ..
- Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65Birgit Lorenz
Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Germany
Ophthalmology 111:1585-94. 2004..Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization ..
- Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosisJi Jing Pang
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Mol Ther 13:565-72. 2006Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a protein responsible for isomerization of all-trans-retinaldehyde to its photoactive 11-cis-retinaldehyde and is essential for the visual cycle...
- p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissueBonnie J Ching
Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
Int J Mol Med 26:861-7. 2010..Several lines of evidence implicate genetic factors in the formation of BEEC. Among them a murine p63+/+ knockout model showed the full picture of classic exstrophy of the bladder and other urogenital defects within ..
- p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray dataElisabetta Sbisà
Istituto di Tecnologie Biomediche Sede di Bari, CNR, Via Amendola, 122 D 70126 Bari, Italy
BMC Bioinformatics 8:S20. 2007BACKGROUND: The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, ..
- Origin of the vertebrate visual cycle: III. Distinct distribution of RPE65 and beta-carotene 15,15'-monooxygenase homologues in Ciona intestinalisNoriko Takimoto
Department of Life Science, Graduate School of Life Science, University of Hyogo, 3 2 1 Kouto, Kamigori, Ako gun, Hyogo 678 1297, Japan
Photochem Photobiol 82:1468-74. 2006..In the present study, we investigated the possible role and evolutionary origin of the BCO/RPE65 family in the visual cycle by analyzing Ci-BCO localization by immunohistochemistry and by identifying a novel ..
- Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycleT Michael Redmond
Laboratory of Retinal Cell and Molecular Biology and Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 0706, USA
Proc Natl Acad Sci U S A 102:13658-63. 2005b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...
- p63 expression in benign and malignant breast lesionsD Stefanou
Department of Pathology, University of Ioannina Medical School, Ioannina, Greece
Histol Histopathol 19:465-71. 2004The p63 gene encodes six protein isoforms. The transactivating isoforms have similar actions with p53, while the N-isoforms inhibit transcription activation by p53 and transactivating isoforms...
- Quantitative mapping of ion channel regulation by visual cycle activity in rodent photoreceptors in vivoBruce A Berkowitz
Department of Anatomy and Cell Biology, Wayne State University, Detroit, Michigan 48201, USA
Invest Ophthalmol Vis Sci 50:1880-5. 2009..To test the hypothesis that the extent of outer retina uptake of manganese, measured noninvasively with manganese-enhanced MRI (MEMRI), is a quantitative biomarker of photoreceptor ion channel regulation by visual cycle activity...
- Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutantA Bellomaria
Dipartimento di Scienze e Tecnologie Chimiche, University of Rome Tor Vergata, Italy
Cell Cycle 9:3730-9. 2010The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process...
- Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacementKannan Kunchithapautham
Department of Neurosciences, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29425, USA
Invest Ophthalmol Vis Sci 50:4858-64. 2009b>RPE65, a major retinal pigment epithelium protein, is essential in generating 11-cis retinal, the chromophore for all opsins. Without chromophore, cone opsins are mislocalized and cones degenerate rapidly (e.g., Rpe65(-/-) mouse)...
- Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effectG D Aguirre
James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 6401, USA
Mol Vis 4:23. 1998To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the ..
- Reassessment of the subcellular localization of p63A Schweizer
Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
J Cell Sci 108:2477-85. 1995b>p63 is a type II integral membrane protein that has previously been suggested to be a resident protein of a membrane network interposed between the ER and the Golgi apparatus...
- Increased expression of p63 and survivin in cholesteatomasH R Park
Department of Pathology, College of Medicine, Hallym University Sacred Heart Hospital, 896 Pyungchon Dong, Anyang, Korea
Acta Otolaryngol 129:268-72. 2009This study showed increased expression of p63 and survivin in cholesteatoma. Our finding indicates a putative role of p63 and survivin in the development of certain cholesteatomas.
- Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosisXia Li
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, People s Republic of China
Invest Ophthalmol Vis Sci 52:7-15. 2011b>RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration...
- Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosisSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Hum Gene Ther 17:845-58. 2006..Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. LCA caused by RPE65 mutations has been studied in animal models and vision has been restored by subretinal delivery of AAV-RPE65 ..
- The expression and diagnostic utility of p63 in the female genital tractOisin Houghton
Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland
Adv Anat Pathol 16:316-21. 2009b>p63 plays a key role in epithelial development in various organs, being expressed in myoepithelial cells and in basal cells of stratified epithelia...
- p63, CK7, PAX8 and INI-1: an optimal immunohistochemical panel to distinguish poorly differentiated urothelial cell carcinoma from high-grade tumours of the renal collecting systemJason C Carvalho
Department of Pathology, University of Michigan Medical Center, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0602, USA
Histopathology 60:597-608. 2012..Accurate classification, especially the distinction of UC from RCC, is critical, as therapeutic approaches differ...
- Role of CD10, wide-spectrum keratin, p63, and podoplanin in the distinction of epithelioid and spindle cell tumors of the skin: an immunohistochemical study of 81 casesJ Noelle Buonaccorsi
Department of Dermatopathology and the Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Am J Dermatopathol 34:404-11. 2012..We evaluated the utility of a battery of immunohistochemical markers, including podoplanin (D2-40), CD10, p63, and wide-spectrum cytokeratin, for distinguishing cutaneous epithelioid and spindle cell tumors...
- p63 cytoplasmic aberrance is associated with high prostate cancer stem cell expressionParanita Ferronika
Department of Pathology, Faculty of Medicine, Gadjah Mada University, Indonesia
Asian Pac J Cancer Prev 13:1943-8. 2012..stem cell or reserve cell populations in several epithelia including prostate has been shown to be regulated by p63 and alteration of p63 expression is considered to have an oncogenic role in prostate cancer...
- Structure and kinetic stability of the p63 tetramerization domainEviatar Natan
Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK
J Mol Biol 415:503-13. 2012The p53 family of transcription factors--comprising p53, p63 and p73--plays an important role in tumor prevention and development...
- Putative function of TAP63α during endochondral bone formationFeifei Li
Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, USA
Gene 495:95-103. 2012b>P63, a member of the P53 tumor suppressor family, is known to play important functions in cancer and development...
- Evaluation of 9-cis-retinyl acetate therapy in Rpe65-/- miceTadao Maeda
Departments of Pharmacology
Invest Ophthalmol Vis Sci 50:4368-78. 2009Mice lacking retinal pigment epithelium-specific 65-kDa protein (RPE65) develop retinopathy and blindness resembling Leber congenital amaurosis...
- Expression of p63 and p73 in retinoblastoma: a clinicopathological correlation studyMohan Adithi
Department of Ocular Pathology, Vision Research Foundation, Sankara Nethralaya, 18 College Road, Chennai 600 006, Tamil Nadu, India
Exp Eye Res 87:312-8. 2008The aim of the study was to explore the expression profile of p63, p73 and their delta isoforms in the retinoblastoma tumor samples and to correlate with clinicopathological parameters...
- Early-onset severe rod-cone dystrophy in young children with RPE65 mutationsB Lorenz
Department of Pediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Germany
Invest Ophthalmol Vis Sci 41:2735-42. 2000To describe the ocular phenotype of patients with RPE65 mutations in infancy and young childhood.
- A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retinaC P Hamel
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, NIH, Bethesda, Maryland 20892
J Neurosci Res 34:414-25. 1993....
- ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesisR Shalom-Feuerstein
INSERM U898, University of Nice, 28 Avenue Valombrose, Nice, France
Cell Death Differ 18:887-96. 2011b>p63, a member of p53 family, has a significant role in the development and maintenance of stratified epithelia...
- Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65Yusuke Takahashi
Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
J Biol Chem 284:3211-8. 2009b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...
- Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primersK Hagiwara
Laboratory of Human Carcinogenesis, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
Cancer Res 59:4165-9. 1999..the identification of p73, a second homologue of the human p53 tumor suppressor gene has been reported and named p63/p73L/p51/p40/CUSP/KET...
- A subset of tumor-derived mutant forms of p53 down-regulate p63 and p73 through a direct interaction with the p53 core domainC Gaiddon
Department of Biological Sciences, Columbia University, New York, New York 10027, USA
Mol Cell Biol 21:1874-87. 2001The p53 protein is related by sequence homology and function to the products of two other genes, p63 and p73, that each encode several isoforms...
- The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutationsMatthew D Westfall
Department of Biochemistry, Center in Molecular Toxicology, The Vanderbilt Ingram Comprehensive Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
Mol Cell Biol 23:2264-76. 2003b>p63 is a recently identified homolog of p53 that is found in the basal layer of several stratified epithelial tissues such as the epidermis, oral mucosa, prostate, and urogenital tract...
- Clinical relevance of the putative stem cell marker p63 in breast cancerL Hanker
Department of Obstetrics and Gynecology, J W Goethe University, Theodor Stern Kai 7, 60590 Frankfurt, Germany
Breast Cancer Res Treat 122:765-75. 2010b>P63 is a member of the p53 family. This protein is crucial for the maintenance of a stem cell population in the human epithelium and necessary for the normal development of all epithelial tissues including mammary glands...
- P63 differentiates subtypes of nonsmall cell carcinomas of lung in cytologic samples: implications in treatment selectionMerce Jorda
Jackson Memorial Hospital, Miami, Florida
Cancer 117:46-50. 2009..The aim of this study was to identify the value of p63 immunocytochemical analysis in this distinction.
- Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyArtur V Cideciyan
Scheie Eye Institute, University of Pennsylvania, 51 North 39th St, Philadelphia, PA 19104, USA
Prog Retin Eye Res 29:398-427. 2010..b>RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid ..
- Differential expression of two new members of the p53 family, p63 and p73, in extramammary Paget's diseaseS Chen
Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Clin Exp Dermatol 33:634-40. 2008The proteins p53, p63 and p73 are known to be overexpressed and to play important roles in the pathogenesis of many tumours, but the expression of p63 and p73 has not previously been investigated in extramammary Paget's disease (EMPD).
- Maspin, p53, p63, and Ki-67 in epithelial lesions of the tongue: from hyperplasia through dysplasia to carcinomaMarilena Vered
Department of Oral Pathology and Oral Medicine, School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel
J Oral Pathol Med 38:314-20. 2009..hyperplasia (HP), mild dysplasia (MD), moderate-to-severe dysplasia (MSD) and squamous cell carcinoma (SCC)] was investigated and correlated to the expression of maspin-regulating factors p53 and p63, and the proliferation marker Ki-67.
- Value of p63 and podoplanin (D2-40) immunoreactivity in the distinction between primary cutaneous tumors and adenocarcinomas metastatic to the skin: a clinicopathologic and immunohistochemical study of 79 casesJose A Plaza
Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA
J Cutan Pathol 37:403-10. 2010..The purpose of this study was to evaluate the role of p63 and podoplanin (D2-40) immunoreactivity for separating primary skin tumors vs...
- Successful RPE65 gene replacement and improved visual function in humansRobert K Koenekoop
Ophthalmic Genet 29:89-91. 2008..In some of the genetic subtypes of LCA (e.g. RPE65), viable photoreceptors and a relatively intact retina have been discovered...
- Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneF Marlhens
Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
Eur J Hum Genet 6:527-31. 1998..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..
- Defining the residual vision in leber congenital amaurosis caused by RPE65 mutationsSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 50:2368-75. 2009To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations.
- Aberrant cytoplasmic expression of p63 and prostate cancer mortalityPreet K Dhillon
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Cancer Epidemiol Biomarkers Prev 18:595-600. 2009Protein expression of p63 is used to differentiate prostate cancer from benign mimickers...
- [CXCR4 combined with P504S or P63 in differential diagnosis of benign and malignant prostatic diseases]Feng Qu
Department of Urology, Drum Tower Hospital Affiliated to Nanjing University School of Medicine, Nanjing, Jiangsu 210008, China
Zhonghua Nan Ke Xue 14:1059-62. 2008To evaluate the application of CXC chemokine receptor-4 (CXCR4) combined with alpha-methylacyl-CoA racemase (P504S) or P63 protein in the differential diagnosis of benign and malignant prostatic diseases.
- Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65A Veske
Institut fur Humangenetik, Universitäts Klinikum Hamburg Eppendorf, Butenfeld 42, Hamburg, D 22529, Germany
Genomics 57:57-61. 1999The RPE65 gene encodes a 65-kDa microsomal protein expressed exclusively in retinal pigment epithelium (RPE)...
- [The changing pattern of stem cell markers of sweat gland in deep partial-thickness burn wound]Du yin Jiang
Emergency Department of the Second Hospital of Shandong University, Ji nan 250033, China
Zhonghua Shao Shang Za Zhi 25:301-4. 2009..To investigate the rules of proliferation of epithelial cells of sweat glands in deep partial-thickness burn wound and its transdifferentiation towards epidermal cells during healing process to explore its mechanisms...
- Gene therapy following subretinal AAV5 vector delivery is not affected by a previous intravitreal AAV5 vector administration in the partner eyeWensheng Li
Eye Hospital, School of Optometry and Ophthalmology, Wenzhou Medical College, Wenzhou, China
Mol Vis 15:267-75. 2009..vector transduction is altered by a previous intravitreal injection in the partner eye and more importantly whether therapeutic efficiency is altered in the rd12 mouse (with a recessive RPE65 mutation) after the same injection series.
- Endogenous retrovirus drives hitherto unknown proapoptotic p63 isoforms in the male germ line of humans and great apesUlrike Beyer
Department of Molecular Oncology, Göttingen Center of Molecular Biosciences, University of Gottingen, D 37077 Gottingen, Germany
Proc Natl Acad Sci U S A 108:3624-9. 2011..An equivalent gene for guarding the male germ line is currently not known. Here we identify hitherto unknown human p63 transcripts with unique 5'-ends derived from incorporated exons upstream of the currently mapped TP63 gene...
- Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early agesSergey L Znoiko
Departments of Ophthalmology, Medical University of South Carolina, Charleston, South Carolina, USA
Invest Ophthalmol Vis Sci 46:1473-9. 2005b>RPE65 is essential for the generation of 11-cis retinal. Rod photoreceptors in the RPE65-knockout (Rpe65(-/-)) mouse are known to degenerate slowly with age...
- Immunohistochemical expression of p63, p53 and MIB-1 in urinary bladder carcinoma. A tissue microarray study of 158 casesEva Comperat
Service Central d Anatomie et Cytologie Pathologiques et d Urologie, hôpital La Pitié Salpêtrière, 83, Bd de l Hopital, 75013 Paris, France
Virchows Arch 448:319-24. 2006b>P63 is a member of the p53 family, which plays a role in the differentiation of urothelium and is supposed to play a role in urothelial carcinogenesis...
- Specificity of binding of all-trans-retinyl ester to RPE65Pranab Maiti
Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, 45 Shattuck Street, Boston, Massachusetts 02115, USA
Biochemistry 44:14463-9. 2005Membrane-bound RPE65 (mRPE65) is a binding protein for all-trans-retinyl esters, which are the substrates for the isomerization reaction that completes the visual cycle. RPE65 is essential for rhodopsin regeneration and, hence, for vision...
- p63/73 homologues in surf clam: novel signaling motifs and implications for control of expressionRachel L Cox
Laboratory of Aquatic Biomedicine, Woods Hole, MA 02543, USA
Gene 320:49-58. 2003..gene family members during invertebrate embryonic development, we used polymerase chain reaction (PCR) to identify p63/73 homologues in the marine mollusc Spisula solidissima...
- Comparison of p63 and p73 expression in benign and malignant salivary gland lesionsRaja R Seethala
University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
Head Neck 27:696-702. 2005The p63 and p73 genes are members of the p53 family and play an important role in stem cell identity and cellular differentiation and are expressed in basal and myoepithelial cells...
- P73 functionally replaces p53 in Adriamycin-treated, p53-deficient breast cancer cellsMuriel Vayssade
Unité de Génétique Tumorale, Departement de Biologie Clinique, Institut Gustave Roussy, Villejuif Cedex, France
Int J Cancer 116:860-9. 2005p53-Related genes, p73 and p63, encode 2 classes of proteins, TA-p73/p63 and DeltaN-p73/p63...
- Is p63 reliable in detecting microinvasion in ductal carcinoma in situ of the breast?Alfredo Ribeiro-Silva
Department of Pathology, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo FMRP USP, Brazil
Pathol Oncol Res 9:20-3. 2003b>P63, a p53 homologue, is considered to be a marker of myoepithelial cells in breast tissue...
- MODELS OF HEREDITY RETINAL DEGENERATIONGregory Acland; Fiscal Year: 2004..rod-cone degeneration prcd, early retinal degeneration erd, cone degeneration cd, and the newly available RPE65 mutant dog strain), together with appropriate nonaffected control dogs, will be bred and maintained...
- Biochemical and Genetic Analysis of the Visual CycleGABRIEL TRAVIS; Fiscal Year: 2007..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
- STUDIES OF RPE65Jian Xing Ma; Fiscal Year: 2004Protein RPE65 plays a role in recycling of 11-cis retinal and thus, is essential for regeneration of visual pigments in photoreceptors. Defects in RPE65 genes are associated with several forms of retinal dystrophies...
- STUDIES OF RPE65Jian Xing Ma; Fiscal Year: 2010..b>RPE65 is a membrane-associated protein predominantly expressed in the retinal pigment epithelium (RPE)...
- Cytoplasmic Reactivation of p53 Family MembersCharles Walker; Fiscal Year: 2004..leukemia in the soft-shell clam, Mya arenaria, in which clam homologs that we have identified for human p53 and p63/73 proteins are rendered non-functional by their sequestration in the cytoplasm of leukemic clam hemocytes...
- Retinyl Ester Binding Proteins and the Visual CycleRobert Rando; Fiscal Year: 2007..the membrane associated form (mRPE65) which stereospecifically binds tREs and the soluble form of this protein (sRPE65) is shown to stereospecifically bind vitamin A with high affinity...
- P63/IGFBP3/BCL2 Control of Corneal Epithelial HomeostasisDANIELLE ROBERTSON; Fiscal Year: 2009....
- P63/IGFBP3/BCL2 Control of Corneal Epithelial HomeostasisDanielle M Robertson; Fiscal Year: 2010....
- Characterization of the Desmosome Protein PerpLAURA ATTARDI; Fiscal Year: 2007..Using knockout mice, we recently identified the Perp tetraspan membrane protein as a component of the p63 stratified epithelial development program, where it plays an essential role in desmosome function and epithelial ..
- Characterization of the Desmosome Protein PerpLaura D Attardi; Fiscal Year: 2010..Using knockout mice, we recently identified the Perp tetraspan membrane protein as a component of the p63 stratified epithelial development program, where it plays an essential role in desmosome function and epithelial ..
- Mechanisms regulating prostate epithelium maintenance and regenerationSabina Signoretti; Fiscal Year: 2010..The p63 gene is selectively expressed in basal cells of various epithelia and is required for epithelial development...
- STUDIES OF RPE65Jian Xing Ma; Fiscal Year: 2007..b>RPE65 is a protein predominantly expressed in the RPE and essential for regeneration of 11-cis retinal...
- STUDIES OF RPE65Jian Xing Ma; Fiscal Year: 2009..b>RPE65 is a protein predominantly expressed in the RPE and essential for regeneration of 11-cis retinal...
- RETINAL PATHOPHYSIOLOGY OF INFANTS AND ADULTSDavid Birch; Fiscal Year: 2005..As in the abcr-/- and rpe65-/- models, these studies should help clarify the underlying defect and lead to pharmaceutical interventions...
- PHYSIOLOGY OF PHOTORECEPTORSGORDON LEE FAIN; Fiscal Year: 2010..either to lack certain transduction proteins such as the guanylyl cyclase activating proteins (GCAPs) or the RPE65 retinal isomerase, or to contain transduction proteins with site-directed mutations, such as phosphodiesterase ..
- REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMISDENNIS ROOP; Fiscal Year: 2010..We have recently demonstrated that the transcription factor p63 is the molecular switch for initiation of the epidermal stratification program...
- SYNTHETIC RETINAL PIGMENTS AND BINDING PROTEINSRosalie Crouch; Fiscal Year: 2005..on the study of the interaction of this ligand with the various rod and cone opsins and the role of one protein, RPE65, which is critical for the generation of the form of retinal that binds to those opsins, the 11-cis isomer...
- MECHANISMS OF VISUAL TRANSDUCTIONEDWARD PUGH; Fiscal Year: 2005..the cellular all-trans retinal dehydrogenase, and the retinal pigment epithelium dioxygenase homologue, RPE65. The research will impact on visual health as follows...
- ROLE OF PI3 KINASE AND ITS DOWNSTREAM TARGET BCL-XL IN RPEYUN LE; Fiscal Year: 2002..Therefore, I propose 1) to generate and characterize transgenic mice expressing RPE-specific Cre driven by RPE65 promoter; 2) to generate RPE-specific PI3K and/or Bcl-x null mice and test the hypothesis that PI3K and BCl-xL are ..
- p63-Dependent Checkpoints in OocytesFrank D McKeon; Fiscal Year: 2010..How DNA damage triggers the death of these arrested oocytes is poorly understood but we now know that p63, a homolog of the p53 tumor suppressor, is highly expressed in these oocytes and plays an essential role in their ..
- Biochemical and Genetic Analysis of the Visual CycleGABRIEL TRAVIS; Fiscal Year: 2009..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
- RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUSWilliam Hauswirth; Fiscal Year: 2007..Stargardt's disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
- RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUSWilliam Hauswirth; Fiscal Year: 2009..disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
- Role of PUMA in EGFR targeted therapy in HNSCCJian Yu; Fiscal Year: 2010..Furthermore, EGFR TKIs induce PUMA through the effects on the p53 family members p63 and p73, but not p53 itself...
- Molecular etiology of cervicovaginal adenosis by in utero hormone exposureTakeshi Kurita; Fiscal Year: 2010..demonstrated that developmental exposure to DES induces cervical/vaginal adenosis by disrupting expression of p63 transcription factor, which is essential for development of squamous epithelia...
- Clinical trials of gene therapy for Leber congenital amaurosisSamuel Jacobson; Fiscal Year: 2007..gene delivery to the retina of patients with blindness from Leber congenital amaurosis (LCA) and mutations in the RPE65 (retinal pigment epithelium-specific protein 65-kDa) gene...